HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135800406T>G , CM000664.2:g.135800406T>G | GRCh38 |
NC_000002.11:g.136557976T>G , CM000664.1:g.136557976T>G | GRCh37 |
NC_000002.10:g.136274446T>G | NCBI36 |
NG_008104.2:g.59764A>C , LRG_338:g.59764A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.4866+201A>C MANE Select | ENSP00000264162.2:n.4866+201A>C | |
ENST00000264162.6:c.4866+201A>C | ENSP00000264162.2:n.4866+201A>C | |
ENST00000452974.1:c.2960-2268A>C | ENSP00000391231.1:n.2960-2268A>C | |
NM_002299.2:c.4866+201A>C , LRG_338t1:c.4866+201A>C | NP_002290.2:n.4866+201A>C | |
NM_002299.3:c.4866+201A>C | NP_002290.2:n.4866+201A>C | |
XM_017004088.2:c.4866+201A>C | XP_016859577.1:n.4866+201A>C | |
NM_002299.4:c.4866+201A>C MANE Select | NP_002290.2:n.4866+201A>C |